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Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis.
Eur J Med Genet. 2022 May;65(5):104467. doi: 10.1016/j.ejmg.2022.104467. Epub 2022 Mar 1.
Eur J Med Genet. 2022.
PMID: 35240323
Free article.
Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14.
Letteboer TG, Benzinou M, Merrick CB, Quigley DA, Zhau K, Kim IJ, To MD, Jablons DM, van Amstel JK, Westermann CJ, Giraud S, Dupuis-Girod S, Lesca G, Berg JH, Balmain A, Akhurst RJ.
Letteboer TG, et al.
Front Genet. 2015 Mar 12;6:67. doi: 10.3389/fgene.2015.00067. eCollection 2015.
Front Genet. 2015.
PMID: 25815003
Free PMC article.
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Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients.
László A, Török L, Raffai S, Török E, Sallay E, Endreffy E, Morvai L, van Amstel JK.
László A, et al.
Ideggyogy Sz. 2012 Jan 30;65(1-2):35-9.
Ideggyogy Sz. 2012.
PMID: 22338844
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Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia.
Benzinou M, Clermont FF, Letteboer TG, Kim JH, Espejel S, Harradine KA, Arbelaez J, Luu MT, Roy R, Quigley D, Higgins MN, Zaid M, Aouizerat BE, van Amstel JK, Giraud S, Dupuis-Girod S, Lesca G, Plauchu H, Hughes CC, Westermann CJ, Akhurst RJ.
Benzinou M, et al.
Nat Commun. 2012 Jan 10;3:616. doi: 10.1038/ncomms1633.
Nat Commun. 2012.
PMID: 22233626
Free PMC article.
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The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.
Stapelbroek JM, Bollen CW, van Amstel JK, van Erpecum KJ, van Hattum J, van den Berg LH, Klomp LW, Houwen RH.
Stapelbroek JM, et al.
J Hepatol. 2004 Nov;41(5):758-63. doi: 10.1016/j.jhep.2004.07.017.
J Hepatol. 2004.
PMID: 15519648
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Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.
Sjarif DR, Hellerud C, van Amstel JK, Kleijer WJ, Sperl W, Lacombe D, Sass JO, Beemer FA, Duran M, Poll-The BT.
Sjarif DR, et al.
Eur J Hum Genet. 2004 Jun;12(6):424-32. doi: 10.1038/sj.ejhg.5201172.
Eur J Hum Genet. 2004.
PMID: 15026783
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